Varaico: Literature-Extracted Genetic Variants

Gene:STAMBPL1

STAMBPL1

55 papers

Pfam Domains

USP8_dimeraa 22–132UCSCUSP8 dimerisation domain
JABaa 264–373UCSCJAB1/Mov34/MPN/PAD-1 ubiquitin protease

Gene Aliases

HGNC Name

STAM binding protein like 1

HGNC Alias Symbols

AMSH-LP; KIAA1373; AMSH-FP; FLJ31524; ALMalpha; bA399O19.2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
4 papers
NM_020799.4
p.K405fs
c.1213_1214fs
3 papers
NM_020799.4
p.E292A
c.875A>C
2 papers
NM_020799.4
p.Q154H
c.462G>C
2 papers
NM_020799.4
p.Q154H
c.462G>T
2 papers
NM_020799.4
p.E204K
c.610G>A
2 papers
NM_020799.4
p.D360A
c.1079A>C
2 papers
NM_020799.4
p.K405fs
c.1213_1214fs
1 paper
NM_020799.4
p.K12M
c.35A>T
1 paper
NM_020799.4
p.R31H
c.92G>A
1 paper
NM_020799.4
p.P48R
c.143C>G
1 paper
NM_020799.4
p.P48L
c.143C>T
1 paper
NM_020799.4
p.A62A
c.186G>A
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